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Long QT syndrome v3.3 KCNH2 Achchuthan Shanmugasundram Publications for gene: KCNH2 were set to 19716085; 31358886; 26888179; 7889573; 9927399
Long QT syndrome v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2023-03-22
Long QT syndrome v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2022-11-30
Long QT syndrome v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Long QT syndrome v2.34 CALM2 Sarah Leigh Phenotypes for gene: CALM2 were changed from Long QT syndrome 15 to Long QT syndrome 15, OMIM:616249; long QT syndrome 15, MONDO:0014550
Long QT syndrome v2.33 CALM2 Sarah Leigh Publications for gene: CALM2 were set to
Long QT syndrome v2.32 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 (611875); Timothy syndrome (601005) to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
Long QT syndrome v2.31 KCNE1 Ivone Leong Tag for-review was removed from gene: KCNE1.
Long QT syndrome v2.31 TRDN Ivone Leong Tag for-review was removed from gene: TRDN.
Long QT syndrome v2.31 KCNE2 Ivone Leong Tag for-review was removed from gene: KCNE2.
Long QT syndrome v2.31 KCNE2 Ivone Leong commented on gene: KCNE2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Long QT syndrome v2.31 KCNE1 Ivone Leong commented on gene: KCNE1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Long QT syndrome v2.31 TRDN Ivone Leong commented on gene: TRDN: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Long QT syndrome v2.30 KCNE2 Ivone Leong Source Expert Review Amber was added to KCNE2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Long QT syndrome v2.29 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from Long QT syndrome 5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695
Long QT syndrome v2.28 ALG10 Sarah Leigh Mode of inheritance for gene: ALG10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome v2.27 ALG10 Sarah Leigh Publications for gene: ALG10 were set to 15280551
Long QT syndrome v2.26 ALG10 Sarah Leigh reviewed gene: ALG10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v2.26 ALG10 Sarah Leigh Phenotypes for gene: ALG10 were changed from {Acquired long QT syndrome, reduced susceptibility to}, 613688 to Progressive myoclonus epilepsy; CDG
Long QT syndrome v2.25 ALG10 Sarah Leigh Tag new-gene-name was removed from gene: ALG10.
Long QT syndrome v2.25 ALG10B Sarah Leigh Entity copied from Cardiac arrhythmias - previous panel v1.5
Long QT syndrome v2.25 ALG10B Sarah Leigh gene: ALG10B was added
gene: ALG10B was added to Long QT syndrome. Sources: Other
Mode of inheritance for gene: ALG10B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ALG10B were set to 15280551
Phenotypes for gene: ALG10B were set to {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688
Long QT syndrome v2.24 ALG10 Sarah Leigh Publications for gene: ALG10 were set to
Long QT syndrome v2.23 ALG10 Sarah Leigh Tag new-gene-name tag was added to gene: ALG10.
Long QT syndrome v2.23 TECRL Ivone Leong Classified gene: TECRL as Amber List (moderate evidence)
Long QT syndrome v2.23 TECRL Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber to match the gene rating suggested in my previous review.
Long QT syndrome v2.23 TECRL Ivone Leong Gene: tecrl has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.22 KCNJ2 Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Andersen syndrome (170390); Atrial fibrillation, familial, 9 (613980); ANDERSEN SYNDROME (170390); LONG QT SYNDROME 7 (170390); Short QT syndrome 3 (609622) to Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222
Long QT syndrome v2.21 Ivone Leong Panel version has been signed off
Long QT syndrome v2.17 TRDN Ivone Leong Classified gene: TRDN as Amber List (moderate evidence)
Long QT syndrome v2.17 TRDN Ivone Leong Added comment: Comment on list classification: This gene has been downgraded from Green to Amber at the request of NHS England following discussion at a Rare Disease workshop.
Long QT syndrome v2.17 TRDN Ivone Leong Gene: trdn has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.16 TRDN Ivone Leong Tag for-review tag was added to gene: TRDN.
Long QT syndrome v2.16 KCNE1 Ivone Leong commented on gene: KCNE1: Penetrance for this gene has been changed from "complete" to "incomplete" based on PMID: 11692163 and also review from Claire Kirk (UCD).
Long QT syndrome v2.16 KCNE1 Ivone Leong Source South West GLH was removed from KCNE1.
Source London South GLH was removed from KCNE1.
Source North West GLH was removed from KCNE1.
Penetrance for gene KCNE1 was set from to Complete
Long QT syndrome v2.15 SCN5A Ivone Leong changed review comment from: Penetrance for this gene has been changed from "complete" to "incomplete" based on PMID: 9927399 and also review from Claire Kirk (UCD).; to: Penetrance for this gene has been changed from "complete" to "incomplete" based on PMID: 29728395 and also review from Claire Kirk (UCD).
Long QT syndrome v2.15 KCNE1 Ivone Leong Publications for gene: KCNE1 were set to 19716085; 31983240
Long QT syndrome v2.14 SCN5A Ivone Leong commented on gene: SCN5A: Penetrance for this gene has been changed from "complete" to "incomplete" based on PMID: 9927399 and also review from Claire Kirk (UCD).
Long QT syndrome v2.14 SCN5A Ivone Leong Source South West GLH was removed from SCN5A.
Source London South GLH was removed from SCN5A.
Source North West GLH was removed from SCN5A.
Phenotypes for gene: SCN5A were changed from Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3 ; Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) to Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3; Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022)
Penetrance for gene SCN5A was set from to Complete
Long QT syndrome v2.13 SCN5A Ivone Leong Publications for gene: SCN5A were set to 19716085; 29798782; 26888179; 7889574
Long QT syndrome v2.12 KCNQ1 Ivone Leong Publications for gene: KCNQ1 were set to 19716085; 26888179; 8528244
Long QT syndrome v2.11 KCNH2 Ivone Leong Publications for gene: KCNH2 were set to 19716085; 31358886; 26888179; 7889573
Long QT syndrome v2.10 KCNH2 Ivone Leong commented on gene: KCNH2: Penetrance for this gene has been changed from "complete" to "incomplete" based on PMID: 9927399 and also review from Claire Kirk (UCD).
Long QT syndrome v2.10 KCNH2 Ivone Leong Source South West GLH was removed from KCNH2.
Source London South GLH was removed from KCNH2.
Source North West GLH was removed from KCNH2.
Penetrance for gene KCNH2 was set from to Complete
Long QT syndrome v2.9 KCNQ1 Ivone Leong edited their review of gene: KCNQ1: Added comment: Penetrance for this gene has been changed from "complete" to "incomplete" based on PMID: 9927399 and also review from Claire Kirk (UCD).; Changed publications: 9927399
Long QT syndrome v2.9 KCNQ1 Ivone Leong Source South West GLH was removed from KCNQ1.
Source London South GLH was removed from KCNQ1.
Source North West GLH was removed from KCNQ1.
Penetrance for gene KCNQ1 was set from to Complete
Long QT syndrome v2.8 TRDN Ivone Leong Classified gene: TRDN as Green List (high evidence)
Long QT syndrome v2.8 TRDN Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene has been given a Green status based on the evidence, which supports a gene-disease association.
Long QT syndrome v2.8 TRDN Ivone Leong Gene: trdn has been classified as Green List (High Evidence).
Long QT syndrome v2.7 KCNE2 Ivone Leong Tag for-review tag was added to gene: KCNE2.
Long QT syndrome v2.7 KCNE1 Ivone Leong Tag for-review tag was added to gene: KCNE1.
Long QT syndrome v2.7 KCNE1 Ivone Leong Publications for gene: KCNE1 were set to 19716085
Long QT syndrome v2.6 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Long QT syndrome. Sources: Expert list
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to 31983240; 25922419
Phenotypes for gene: TRDN were set to Long QT syndrome
Review for gene: TRDN was set to GREEN
Added comment: Gene-disease association rated as DEFINITIVE by ClinGen:
Evidence for involvement of TRDN in LQTS was based mainly on a single publication demonstrating 5 cases with homozygous or compound heterozygous frameshift variants. All cases presented during early childhood (up to the age of 3 years) with QT prolongation, negative T waves in precordial leads, and exercise-induced arrhythmias, although typical
torsades de pointes was demonstrated only in 1 case. Experimental evidence demonstrated that TRDN loss of function may lead to arrhythmogenesis but did not specifically show prolongation of repolarization, which is the hallmark of LQTS. Accordingly, there was a debate
within the panel as to whether the TRDN-related cardiac phenotype should be classified as CPVT or as a unique syndrome, referred in the literature as triadin knockout syndrome. Because QT prolongation was the most easily discernable abnormality, it was decided to consider these cases as having an atypical LQTS phenotype. Furthermore, it was agreed that there was strong evidence for TRDN’s disease association.
Sources: Expert list
Long QT syndrome v2.6 KCNE2 Zornitza Stark reviewed gene: KCNE2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 6, MIM# 613693; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v2.6 KCNE1 Zornitza Stark reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Long QT syndrome 5, MIM# 613695; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Long QT syndrome v2.6 CALM3 Eleanor Williams Phenotypes for gene: CALM3 were changed from to ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782; Long QT syndrome 16,618782
Long QT syndrome v2.5 KCNE1 Claire Kirk commented on gene: KCNE1
Long QT syndrome v2.4 Catherine Snow Panel version has been signed off
Long QT syndrome v2.3 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Long QT syndrome v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Long QT syndrome v2.0 Ivone Leong promoted panel to version 2.0
Long QT syndrome v1.49 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Long QT syndrome v1.48 CALM3 Ivone Leong Source Expert Review Green was added to CALM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Long QT syndrome v1.48 CALM2 Ivone Leong Source Expert Review Green was added to CALM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Long QT syndrome v1.48 CALM1 Ivone Leong Source Expert Review Green was added to CALM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Long QT syndrome v1.47 CALM3 Kate Thomson reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.47 CALM2 Kate Thomson reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.47 CALM1 Kate Thomson reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.46 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Long QT syndrome v1.45 ANK2 Matthew Edwards changed review comment from: Gene on Royal Brompton diagnostic panel. Only VUS reported from our lab. Good evidence for association with arrhythmia phenotypes rather than classic LQTS, but gene should exist on this panel as well as larger arrhythmia panel due to possible clinical overlap/differential diagnosis; to: Gene on Royal Brompton diagnostic panel. Only VUS reported from our lab. Limited evidence for association with arrhythmia phenotypes rather than classic LQTS, and likely only rare LOF causative. But gene should possibly exist on this panel as well as larger arrhythmia panel due to possible clinical overlap/differential diagnosis?
Long QT syndrome v1.45 CALM3 Ivone Leong Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.44 CAV3 Ivone Leong reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 KCNJ5 Ivone Leong reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 SCN4B Ivone Leong reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 SCN5A Ivone Leong edited their review of gene: SCN5A: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Long QT syndrome v1.44 KCNQ1 Ivone Leong edited their review of gene: KCNQ1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Long QT syndrome v1.44 KCNJ2 Ivone Leong reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 KCNH2 Ivone Leong reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 KCNE2 Ivone Leong reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 KCNE1 Ivone Leong edited their review of gene: KCNE1: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Long QT syndrome v1.44 CALM3 Ivone Leong reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 CALM2 Ivone Leong reviewed gene: CALM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 CALM1 Ivone Leong reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.44 CACNA1C Ivone Leong reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Long QT syndrome v1.43 TECRL Ivone Leong gene: TECRL was added
gene: TECRL was added to Long QT syndrome. Sources: NHS GMS
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021
Review for gene: TECRL was set to AMBER
Added comment: New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Sources: NHS GMS
Long QT syndrome v1.42 SCN5A Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Long QT syndrome v1.42 SCN5A Ivone Leong Mode of inheritance for gene: SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.41 KCNQ1 Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Long QT syndrome v1.41 KCNQ1 Ivone Leong Mode of inheritance for gene: KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.40 KCNE1 Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Long QT syndrome v1.40 KCNE1 Ivone Leong Mode of inheritance for gene: KCNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.39 CAV3 Ivone Leong Publications for gene: CAV3 were set to
Long QT syndrome v1.38 KCNJ5 James Eden reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: None; Publications: 23872692; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.38 KCNJ5 James Eden Deleted their review
Long QT syndrome v1.38 ANK2 James Eden reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.38 ANK2 James Eden Deleted their review
Long QT syndrome v1.38 KCNJ5 Matthew Edwards changed review comment from: Gene currently on Royal Brompton diagnostic pane, only a few VUS reported. Low literature evidence based on small number of cases (mainly Wang et al. (2013) Heart Rhythm 10:1500-1506). However in view of some evidence, should be amber rather than red.; to: Gene currently on Royal Brompton diagnostic panel, only a few VUS reported. Low literature evidence based on small number of cases (mainly Wang et al. (2013) Heart Rhythm 10:1500-1506).
Long QT syndrome v1.38 SCN4B Matthew Edwards reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.38 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.38 CAV3 Matthew Edwards changed review comment from: Currently on Royal Brompton diagnostic panel. Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear. ; to: Currently on CGGL Royal Brompton diagnostic panel, only VUS reported to date Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear.
Long QT syndrome v1.38 CAV3 Matthew Edwards changed review comment from: Currently on Royal Brompton diagnostic panel. Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear. would suggest amber designation rather than red..; to: Currently on Royal Brompton diagnostic panel. Some limited evidence in literature of de novo CAV3 variants associated LQTS, with some data demonstrating a gain-of-function increase in late sodium current. (PMID: 17060380), but functional link not very clear.
Long QT syndrome v1.38 CALM3 Matthew Edwards reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.38 CALM2 Matthew Edwards reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24917665, 26969752; Phenotypes: OMIM 616249 Long QT syndrome 15; Mode of inheritance: None; Current diagnostic: yes
Long QT syndrome v1.38 CALM1 Matthew Edwards changed review comment from: Gene on Royal Brompton LQTS panel, but low evidence for this (although some evidence for de novo variant assoc. with LQTS/VT phenotype). Definitive for CPVT. Happy woth Amber on LQTS panel; to: On CGGL Royal Brompton LQTS panel, but low evidence for this (although some evidence for de novo variant assoc. with LQTS/VT phenotype). Definitive for CPVT. Happy with Amber on LQTS panel
Long QT syndrome v1.38 SCN5A Ivone Leong Publications for gene: SCN5A were set to 19716085
Long QT syndrome v1.37 KCNQ1 Ivone Leong Publications for gene: KCNQ1 were set to 19716085
Long QT syndrome v1.36 KCNJ2 Ivone Leong Publications for gene: KCNJ2 were set to 19716085
Long QT syndrome v1.35 KCNH2 Ivone Leong Publications for gene: KCNH2 were set to 19716085; 31358886
Long QT syndrome v1.34 KCNE2 Ivone Leong Phenotypes for gene: KCNE2 were changed from Long QT syndrome-6 (613693); Long QT syndrome-6 ; Atrial fibrillation, familial, 4 (611493) to Long QT syndrome 6 (613693); Atrial fibrillation, familial, 4 (611493)
Long QT syndrome v1.33 KCNE2 Ivone Leong Publications for gene: KCNE2 were set to 19716085
Long QT syndrome v1.32 KCNE1 Ivone Leong Phenotypes for gene: KCNE1 were changed from Long QT syndrome-5 (613695); Long QT syndrome-5 ; Jervell and Lange-Nielsen syndrome 2 (612347) to Long QT syndrome 5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347)
Long QT syndrome v1.31 CACNA1C Ivone Leong Publications for gene: CACNA1C were set to 18250309
Long QT syndrome v1.30 Ivone Leong List of related panels changed from Long QT to Long QT; R127
Long QT syndrome v1.29 KCNH2 Ellen McDonagh Publications for gene: KCNH2 were set to 19716085
Long QT syndrome v1.26 SCN4B Rebecca Whittington commented on gene: SCN4B: Atrial fibrillation, familial, 17 (OMIM 611819), Long QT syndrome-10 (OMIM 611819).
Long QT syndrome v1.26 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (OMIM 600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM 604772)
Long QT syndrome v1.26 NOS1AP Rebecca Whittington commented on gene: NOS1AP: [QT interval, variation in] (OMIM %610741) - only association
Long QT syndrome v1.26 KCNE3 Rebecca Whittington commented on gene: KCNE3: ?Brugada syndrome 6 (OMIM 613119)
Long QT syndrome v1.26 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).
Long QT syndrome v1.26 CALM1 Rebecca Whittington commented on gene: CALM1: Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).
Long QT syndrome v1.26 AKAP9 Rebecca Whittington commented on gene: AKAP9: ?Long QT syndrome-11 (OMIM 611820)
Long QT syndrome v1.26 SNTA1 Rebecca Whittington commented on gene: SNTA1: Long QT syndrome 12 (OMIM 612955)
Long QT syndrome v1.26 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (OMIM 614022), Brugada syndrome 1 (OMIM 601144), Cardiomyopathy, dilated, 1E (OMIM 601154), Heart block, nonprogressive (OMIM 113900), Heart block, progressive, type IA (OMIM 113900), Long QT syndrome-3 (OMIM 603830), Sick sinus syndrome 1 (OMIM 608567), Ventricular fibrillation, familial, 1 (OMIM 603829-AR), {Sudden infant death syndrome, susceptibility to} (OMIM 272120-AR).
Long QT syndrome v1.26 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Atrial fibrillation, familial, 3 (OMIM 607554), Jervell and Lange-Nielsen syndrome (OMIM 220400 - AR), Long QT syndrome 1 (OMIM 192500), Short QT syndrome 2 (609621), {Long QT syndrome 1, acquired, susceptibility to} (OMIM 192500)
Long QT syndrome v1.26 KCNJ5 Rebecca Whittington commented on gene: KCNJ5: Hyperaldosteronism, familial, type III (OMIM 613677), Long QT syndrome 13 (OMIM 613485).
Long QT syndrome v1.26 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)
Long QT syndrome v1.26 KCNH2 Rebecca Whittington commented on gene: KCNH2: Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688)
Long QT syndrome v1.26 KCNE2 Rebecca Whittington commented on gene: KCNE2: Atrial fibrillation, familial, 4 (OMIM 611493), Long QT syndrome 6 (OMIM 613693)
Long QT syndrome v1.26 KCNE1 Rebecca Whittington commented on gene: KCNE1: Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)
Long QT syndrome v1.26 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005)
Long QT syndrome v1.26 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Long QT syndrome v1.26 CALM3 Rebecca Whittington commented on gene: CALM3: No links to phenotypes on OMIM
Long QT syndrome v1.26 CALM2 Rebecca Whittington commented on gene: CALM2: Long QT syndrome 15 (OMIM 616249)
Long QT syndrome v1.26 ALG10 Rebecca Whittington commented on gene: ALG10: {Long QT syndrome, acquired, reduced susceptibility to} (OMIM 613688)
Long QT syndrome v1.25 SCN4B Rebecca Whittington commented on gene: SCN4B: Looks to be evidence in the Medeiros-Domingo paper (PMID 17592081) of a variant that tracked in a family, not on GnomAD and also functional evidence. PMID: 23631430. PMID: 23604097.
Long QT syndrome v1.25 RYR2 Rebecca Whittington commented on gene: RYR2: Gene associated With CPVT mainly but reported with LQT cases (PMID 26132555). PMID: 21126784. http://www.avidscience.com/wp-content/uploads/2017/07/update-on-the-genetic-basis-of-long-qt-syndrome.pdf. https://www.ahajournals.org/doi/abs/10.1161/circ.134.suppl_1.20155.
Long QT syndrome v1.25 NOS1AP Rebecca Whittington commented on gene: NOS1AP: Not enough evidence for this gene. PMID:26132555. PMID: 20538168.
Long QT syndrome v1.25 KCNE3 Rebecca Whittington commented on gene: KCNE3: No evidence for LQT - ? some evidence assoc with Brugada. PMID:19122847. PMID: 22987075. PMID 19306396.
Long QT syndrome v1.25 CAV3 Rebecca Whittington commented on gene: CAV3: Not a definitive link for this gene and LQT. May need Clinical input to rule out. PMID:26132555. PMID:17275750. PMID: 24021552. PMID: 17060380.
Long QT syndrome v1.25 CALM1 Rebecca Whittington commented on gene: CALM1: Evidence associated with CPVT primarily. Reported de novo variant in 6 year old boy (PMID: 28491771) with LQT but phenotype not clear (need clinical input). Other paper with strong de novo CALM1 variant in child with LQT and cardiac arrest (PMID:27374306). PMID 23388215.
Long QT syndrome v1.25 AKAP9 Rebecca Whittington commented on gene: AKAP9: No definitive evidence. Although listed on HGMD as associated with LQT - the evidence is not there to back it up. PMID:23174487. PMID:26132555. PMID: 249981977.
Long QT syndrome v1.25 SNTA1 Rebecca Whittington commented on gene: SNTA1: Rare LQT susceptibility gene - see Ueda paper for ? functional evidence. PMID:19684871. PMID:18591664. 23376825
Long QT syndrome v1.25 SCN5A Rebecca Whittington commented on gene: SCN5A: Established LQT gene - numerous literature evidence. PMID:23098067. PMID: 19716085. PMID: 15840176. https://www.sciencedirect.com/science/article/pii/S097262921730178X.
Long QT syndrome v1.25 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Numerous literature evidence from family studies and functional studies - established gene. PMID:19716085. PMID:17470695. PMID: 26344792. PMID: 16253915.
Long QT syndrome v1.25 KCNJ5 Rebecca Whittington commented on gene: KCNJ5: Literature evidence includes a large Chinese Pedigree. PMID:20560207. PMID:25322277. PMID: 24574546.
Long QT syndrome v1.25 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Lots of literature evidence for this gene. PMID: 16217063. PMID: 23440193. PMID: 17221872. PMID: 24861851.
Long QT syndrome v1.25 KCNH2 Rebecca Whittington commented on gene: KCNH2: Literature/functional evidence for this established LQT gene. PMID:28749435. PMID:19716085. PMID: 22429796.
Long QT syndrome v1.25 KCNE2 Rebecca Whittington commented on gene: KCNE2: Literature/functional evidence for this gene. PMID:19716085. PMID:27465075. PMID:20042375.
Long QT syndrome v1.25 KCNE1 Rebecca Whittington commented on gene: KCNE1: Lots of literature evidence for this gene. Possible milder phenotype. PMID:19716085. PMID: 17341399. PMID: 14499862.
Long QT syndrome v1.25 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Literature and functional evidence for this gene. PMID: 25633834. PMID:30023270. PMID:27390944. PMID 24728418.
Long QT syndrome v1.25 ANK2 Rebecca Whittington commented on gene: ANK2: Does not look like classic LQT, patients that have variants sometime asymptomatic. Some variants reported are too frequent.PMID:26132555. PMID: 16253912. PMID: 17242276. PMID:15178757.
Long QT syndrome v1.25 CALM3 Rebecca Whittington commented on gene: CALM3: Literature evidence that de novo variant found in patient with severe LQT (PMID25460178) . Also, some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see 27516456
Long QT syndrome v1.25 CALM2 Rebecca Whittington commented on gene: CALM2: Literature evidence -see PMID: 24917665. PMID:26969752. PMID 23388215.
Long QT syndrome v1.25 ALG10 Rebecca Whittington commented on gene: ALG10: No evidence for this gene to include. PMID:15280551
Long QT syndrome v1.24 SCN4B Rebecca Whittington reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 NOS1AP Rebecca Whittington reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Long QT syndrome v1.24 KCNE3 Rebecca Whittington reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Long QT syndrome v1.24 CAV3 Rebecca Whittington reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 CALM1 Rebecca Whittington reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 AKAP9 Rebecca Whittington reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 SNTA1 Rebecca Whittington reviewed gene: SNTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 KCNQ1 Rebecca Whittington reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 KCNJ5 Rebecca Whittington reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNJ2 Rebecca Whittington reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNH2 Rebecca Whittington reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNE2 Rebecca Whittington reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 KCNE1 Rebecca Whittington reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.24 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 ANK2 Rebecca Whittington reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.24 CALM3 Rebecca Whittington reviewed gene: CALM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Long QT syndrome v1.24 CALM2 Rebecca Whittington reviewed gene: CALM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.24 ALG10 Rebecca Whittington reviewed gene: ALG10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 CALM1 Matthew Edwards reviewed gene: CALM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.23 CAV3 Matthew Edwards reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: 17060380; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 SNTA1 Matthew Edwards reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 KCNJ5 Matthew Edwards reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Long QT syndrome v1.23 ANK2 Matthew Edwards reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12571597; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29798782; Phenotypes: Atrial fibrillation, familial, 10 614022, Brugada syndrome 1 601144, Cardiomyopathy, dilated, 1E 601154, Heart block, nonprogressive 113900, Heart block, progressive, type IA 113900, Long QT syndrome-3 603830, Sick sinus syndrome 1 608567, Ventricular fibrillation, familial, 1 603829, Sudden infant death syndrome, susceptibility to272120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 KCNQ1 Matthew Edwards reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LQTS-1 (192500), SQTS 2 (609621), JLNS (220400), Atrial fibrillation, familial, 3 (607554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.23 KCNJ2 Matthew Edwards reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Andersen Tawil syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 KCNH2 Matthew Edwards reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Long QT syndrome v1.23 KCNE2 Matthew Edwards reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome-6 (613693), Atrial fibrillation, familial, 4 (611493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.23 KCNE1 Matthew Edwards reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716085; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (612347), Long QT syndrome-5 (613695); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Long QT syndrome v1.23 CACNA1C Matthew Edwards reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 18250309, 25633834, 24728418; Phenotypes: Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.23 ANK2 Ellen McDonagh Classified gene: ANK2 as Red List (low evidence)
Long QT syndrome v1.23 ANK2 Ellen McDonagh Added comment: Comment on list classification: Due to the presence of lots of VUS variants in this gene for Long QT syndrome, the decision was made to demote this gene from Green to Red in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, but it should be added to/kept on the larger arrhythmia panels as Green.
Long QT syndrome v1.23 ANK2 Ellen McDonagh Gene: ank2 has been classified as Red List (Low Evidence).
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Marked gene: KCNJ5 as ready
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Gene: kcnj5 has been classified as Red List (Low Evidence).
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Classified gene: KCNJ5 as Red List (low evidence)
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Added comment: Comment on list classification: Due to limited evidence for causation of Long QT syndrome, the decision was made to demote this gene from Green to Red in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019.
Long QT syndrome v1.22 KCNJ5 Ellen McDonagh Gene: kcnj5 has been classified as Red List (Low Evidence).
Long QT syndrome v1.21 SNTA1 Ellen McDonagh Marked gene: SNTA1 as ready
Long QT syndrome v1.21 SNTA1 Ellen McDonagh Gene: snta1 has been classified as Red List (Low Evidence).
Long QT syndrome v1.21 SNTA1 Ellen McDonagh Classified gene: SNTA1 as Red List (low evidence)
Long QT syndrome v1.21 SNTA1 Ellen McDonagh Added comment: Comment on list classification: This gene-disease was discussed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, and it was confirmed that this should be demoted from Green to Red due to lack of evidence for Long QT syndrome.
Long QT syndrome v1.21 SNTA1 Ellen McDonagh Gene: snta1 has been classified as Red List (Low Evidence).
Long QT syndrome v1.20 CALM3 Ellen McDonagh Classified gene: CALM3 as Amber List (moderate evidence)
Long QT syndrome v1.20 CALM3 Ellen McDonagh Added comment: Comment on list classification: It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 to promote this gene from Red to Amber on this panel.
Long QT syndrome v1.20 CALM3 Ellen McDonagh Gene: calm3 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v1.19 CALM2 Ellen McDonagh Classified gene: CALM2 as Amber List (moderate evidence)
Long QT syndrome v1.19 CALM2 Ellen McDonagh Added comment: Comment on list classification: It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 to promote this gene from Red to Amber on this panel.
Long QT syndrome v1.19 CALM2 Ellen McDonagh Gene: calm2 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v1.18 CALM1 Ellen McDonagh Classified gene: CALM1 as Amber List (moderate evidence)
Long QT syndrome v1.18 CALM1 Ellen McDonagh Added comment: Comment on list classification: It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 to promote this gene from Red to Amber on this panel.
Long QT syndrome v1.18 CALM1 Ellen McDonagh Gene: calm1 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v1.17 CALM1 Ellen McDonagh Classified gene: CALM1 as Amber List (moderate evidence)
Long QT syndrome v1.17 CALM1 Ellen McDonagh Added comment: Comment on list classification: It was decided in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 to promote this gene from Red to Amber on this panel.
Long QT syndrome v1.17 CALM1 Ellen McDonagh Gene: calm1 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v1.16 SCN4B Ellen McDonagh Source South West GLH was added to SCN4B.
Mode of inheritance for gene SCN4B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.16 RYR2 Ellen McDonagh Source South West GLH was added to RYR2.
Mode of inheritance for gene RYR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome v1.16 NOS1AP Ellen McDonagh Source South West GLH was added to NOS1AP.
Mode of inheritance for gene NOS1AP was changed from to Unknown
Long QT syndrome v1.16 KCNE3 Ellen McDonagh Source South West GLH was added to KCNE3.
Long QT syndrome v1.16 CAV3 Ellen McDonagh Source South West GLH was added to CAV3.
Long QT syndrome v1.16 CALM3 Ellen McDonagh Source South West GLH was added to CALM3.
Mode of inheritance for gene CALM3 was changed from to Unknown
Long QT syndrome v1.16 CALM2 Ellen McDonagh Source South West GLH was added to CALM2.
Long QT syndrome v1.16 CALM1 Ellen McDonagh Source South West GLH was added to CALM1.
Long QT syndrome v1.16 ALG10 Ellen McDonagh Source South West GLH was added to ALG10.
Mode of inheritance for gene ALG10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.16 AKAP9 Ellen McDonagh Source South West GLH was added to AKAP9.
Mode of inheritance for gene AKAP9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.16 SNTA1 Ellen McDonagh Source South West GLH was added to SNTA1.
Long QT syndrome v1.16 SCN5A Ellen McDonagh Source South West GLH was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Long QT syndrome v1.16 KCNQ1 Ellen McDonagh Source South West GLH was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Long QT syndrome v1.16 KCNJ5 Ellen McDonagh Source South West GLH was added to KCNJ5.
Long QT syndrome v1.16 KCNJ2 Ellen McDonagh Source South West GLH was added to KCNJ2.
Long QT syndrome v1.16 KCNH2 Ellen McDonagh Source South West GLH was added to KCNH2.
Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Long QT syndrome v1.16 KCNE2 Ellen McDonagh Source South West GLH was added to KCNE2.
Long QT syndrome v1.16 KCNE1 Ellen McDonagh Source South West GLH was added to KCNE1.
Mode of inheritance for gene KCNE1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Long QT syndrome v1.16 CACNA1C Ellen McDonagh Source South West GLH was added to CACNA1C.
Long QT syndrome v1.16 ANK2 Ellen McDonagh Source South West GLH was added to ANK2.
Long QT syndrome v1.15 SCN4B Ellen McDonagh edited their review of gene: SCN4B: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 RYR2 Ellen McDonagh edited their review of gene: RYR2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 CAV3 Ellen McDonagh edited their review of gene: CAV3: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 CALM1 Ellen McDonagh edited their review of gene: CALM1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 SNTA1 Ellen McDonagh edited their review of gene: SNTA1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 SCN5A Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 KCNQ1 Ellen McDonagh edited their review of gene: KCNQ1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 KCNJ5 Ellen McDonagh edited their review of gene: KCNJ5: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 KCNJ2 Ellen McDonagh edited their review of gene: KCNJ2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 KCNH2 Ellen McDonagh edited their review of gene: KCNH2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 KCNE2 Ellen McDonagh edited their review of gene: KCNE2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 KCNE1 Ellen McDonagh edited their review of gene: KCNE1: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 CACNA1C Ellen McDonagh edited their review of gene: CACNA1C: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.15 ANK2 Ellen McDonagh edited their review of gene: ANK2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Long QT syndrome v1.14 SCN4B Ellen McDonagh Source London South GLH was added to SCN4B.
Long QT syndrome v1.14 RYR2 Ellen McDonagh Source London South GLH was added to RYR2.
Long QT syndrome v1.14 CAV3 Ellen McDonagh Source London South GLH was added to CAV3.
Long QT syndrome v1.14 CALM1 Ellen McDonagh Source London South GLH was added to CALM1.
Long QT syndrome v1.14 SNTA1 Ellen McDonagh Source London South GLH was added to SNTA1.
Long QT syndrome v1.14 SCN5A Ellen McDonagh Source London South GLH was added to SCN5A.
Long QT syndrome v1.14 KCNQ1 Ellen McDonagh Source London South GLH was added to KCNQ1.
Long QT syndrome v1.14 KCNJ5 Ellen McDonagh Source London South GLH was added to KCNJ5.
Long QT syndrome v1.14 KCNJ2 Ellen McDonagh Source London South GLH was added to KCNJ2.
Long QT syndrome v1.14 KCNH2 Ellen McDonagh Source London South GLH was added to KCNH2.
Long QT syndrome v1.14 KCNE2 Ellen McDonagh Source London South GLH was added to KCNE2.
Long QT syndrome v1.14 KCNE1 Ellen McDonagh Source London South GLH was added to KCNE1.
Long QT syndrome v1.14 CACNA1C Ellen McDonagh Source London South GLH was added to CACNA1C.
Long QT syndrome v1.14 ANK2 Ellen McDonagh Source London South GLH was added to ANK2.
Long QT syndrome v1.13 SNTA1 James Eden reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: ; Publications: 19684871; Phenotypes: Long QT syndrome 12 (612955); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 SCN5A James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Atrial fibrillation, familial, 10 (614022), Brugada syndrome 1 (601144), Cardiomyopathy, dilated, 1E (601154), Heart block, nonprogressive (113900), Heart block, progressive, type IA (113900), Long QT syndrome-3 (603830), Sick sinus syndrome 1 (608567), Ventricular fibrillation, familial, 1 (603829), {Sudden infant death syndrome, susceptibility to} (272120); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.13 SCN4B James Eden reviewed gene: SCN4B: Rating: RED; Mode of pathogenicity: ; Publications: 17592081; Phenotypes: Long QT syndrome-10 (611819); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.13 KCNQ1 James Eden reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome-1 (192500), Short QT syndrome 2 (609621), Jervell and Lange-Nielsen syndrome (220400), Atrial fibrillation, familial, 3 (607554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.13 KCNJ5 James Eden reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome 13 (613485), Hyperaldosteronism, familial, type III (613677); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 KCNJ2 James Eden reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Andersen syndrome (170390), Atrial fibrillation, familial, 9 (613980), Short QT syndrome 3 (609622); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 KCNH2 James Eden reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome-2 (613688), Short QT syndrome 1 (609620); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.13 KCNE2 James Eden reviewed gene: KCNE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Long QT syndrome-6 (613693), Atrial fibrillation, familial, 4 (611493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 KCNE1 James Eden reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19716085; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (612347), Long QT syndrome-5 (613695); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Long QT syndrome v1.13 CACNA1C James Eden reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 18250309; Phenotypes: Brugada syndrome 3 (611875), Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 ANK2 James Eden reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12571597; Phenotypes: Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Long QT syndrome v1.13 AKAP9 James Eden reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 25087618; Phenotypes: Long QT syndrome-11 (611820); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Long QT syndrome v1.12 SNTA1 Ellen McDonagh Source North West GLH was added to SNTA1.
Added phenotypes Long QT syndrome 12 (612955) for gene: SNTA1
Publications for gene SNTA1 were changed from to 19684871
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 SCN5A Ellen McDonagh Source North West GLH was added to SCN5A.
Added phenotypes Ventricular fibrillation, familial, 1 (603829); Brugada syndrome 1 (601144); Heart block, nonprogressive (113900); Heart block, progressive, type IA (113900); {Sudden infant death syndrome, susceptibility to} (272120); Sick sinus syndrome 1 (608567); Long QT syndrome-3 (603830); Cardiomyopathy, dilated, 1E (601154); Atrial fibrillation, familial, 10 (614022) for gene: SCN5A
Publications for gene SCN5A were changed from 7889574; doi:10.​1007/​s12265-016-9673-5; 28391114 to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 SCN4B Ellen McDonagh Source North West GLH was added to SCN4B.
Added phenotypes Long QT syndrome-10 (611819) for gene: SCN4B
Publications for gene SCN4B were changed from PMID: 17592081 to 17592081
Long QT syndrome v1.12 KCNQ1 Ellen McDonagh Source North West GLH was added to KCNQ1.
Added phenotypes Atrial fibrillation, familial, 3 (607554); Jervell and Lange-Nielsen syndrome (220400); Long QT syndrome-1 (192500); Short QT syndrome 2 (609621) for gene: KCNQ1
Publications for gene KCNQ1 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNJ5 Ellen McDonagh Source North West GLH was added to KCNJ5.
Added phenotypes Hyperaldosteronism, familial, type III (613677); Long QT syndrome 13 (613485) for gene: KCNJ5
Publications for gene KCNJ5 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNJ2 Ellen McDonagh Source North West GLH was added to KCNJ2.
Added phenotypes Atrial fibrillation, familial, 9 (613980); Andersen syndrome (170390); Short QT syndrome 3 (609622) for gene: KCNJ2
Publications for gene KCNJ2 were changed from 12163457 to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNH2 Ellen McDonagh Source North West GLH was added to KCNH2.
Added phenotypes Short QT syndrome 1 (609620); Long QT syndrome-2 (613688) for gene: KCNH2
Publications for gene KCNH2 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNE2 Ellen McDonagh Source North West GLH was added to KCNE2.
Added phenotypes Long QT syndrome-6 (613693); Atrial fibrillation, familial, 4 (611493) for gene: KCNE2
Publications for gene KCNE2 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 KCNE1 Ellen McDonagh Source North West GLH was added to KCNE1.
Added phenotypes Long QT syndrome-5 (613695); Jervell and Lange-Nielsen syndrome 2 (612347) for gene: KCNE1
Publications for gene KCNE1 were changed from to 19716085
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 CACNA1C Ellen McDonagh Source North West GLH was added to CACNA1C.
Added phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C
Publications for gene CACNA1C were changed from 15454078 to 18250309
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 ANK2 Ellen McDonagh Source North West GLH was added to ANK2.
Added phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2
Publications for gene ANK2 were changed from to 12571597
Rating Changed from Green List (high evidence) to Green List (high evidence)
Long QT syndrome v1.12 AKAP9 Ellen McDonagh Source North West GLH was added to AKAP9.
Added phenotypes Long QT syndrome-11 (611820) for gene: AKAP9
Publications for gene AKAP9 were changed from 18093912 to 25087618
Long QT syndrome v1.10 SNTA1 Oxford Medical Genetics Laboratory commented on gene: SNTA1: 2 variants reported in the literature one of which Oxford lab classify as unlikely to be pathogenic (0.6% of Europeans on GnomAD). Limited functional evidence of link to arrhythmia - thought to act through interractions with SCN5A. Insufficient evidence to be green gene.
Long QT syndrome v1.10 KCNJ5 Oxford Medical Genetics Laboratory commented on gene: KCNJ5: This gene is linked to LQTS based on a large Chinese family with the p.Gly387Arg variant (Wang et al. (2013) HeartRhythm 10:1500_1506 Yang et al. 2010 American Journal of Human Genetics 86:872-880). However this variant is present in 47 out of 9424 South Asians in GnomAD (0.5 percent). Oxford lab classify as VUS. Therefore no evidence to support that variants in this gene cause LQTS.
Long QT syndrome v1.10 KCNE2 Oxford Medical Genetics Laboratory edited their review of gene: KCNE2: Added comment: Very little genetic variation in this gene. No significant evidence of pathogenic variants in this gene according to todays classification standards but it remains a good functional candidate. Happy for it to remain on the LQT panel. ; Changed rating: AMBER
Long QT syndrome v1.10 CALM1 Oxford Medical Genetics Laboratory commented on gene: CALM1: Most pathogenic variants are detected in individuals with CPVT. Oxford cohort have de novo variants in CALM1 in individuals with a cross over phenotype LQT or VT.
Long QT syndrome v1.10 ANK2 Oxford Medical Genetics Laboratory edited their review of gene: ANK2: Added comment: Ankyrin-B syndrome which is caused by pathogenic mutations in the ANK2 gene is a clinical entity distinct from classical Long QT syndrome. Mohler et al 2004 and Mohler et al 2007 identified that individuals with ANK2 mutations had a range of arrhythmic phenotypes - a prolonged QT interval was not always a feature. Caution should be applied when investigating variants detected in this gene as many variants that have previously been reported as pathogenic have been detected at high frequencies in ExAC. However there is good evidence that variants in this gene cause life threatening arrhythmias. Would like to see this gene on a general arrhythmia panel if not also on the LQTS panel. ; Changed rating: GREEN
Long QT syndrome v1.9 SNTA1 Eleanor Williams Added comment: Comment on phenotypes: Added missing phenotype from OMIM
Long QT syndrome v1.9 SNTA1 Eleanor Williams Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12 612955
Long QT syndrome v1.7 Ellen McDonagh List of related panels changed from to Long QT
Long QT syndrome v1.6 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease